1. A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. (8th September 2019) Authors: Qu, Ronggui; Sang, Qing; Wang, Xueqian; Xu, Yao; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Jin, Li; He, Lin; Wang, Lei Journal: Annals of human genetics Issue: Volume 84:Number 1(2020:Jan.) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic mutations in MOS cause female infertility characterized by preimplantation embryonic arrest. Issue 3 (6th January 2022) Authors: Zeng, Yang; Shi, Juanzi; Xu, Shiru; Shi, Rong; Wu, Tonghua; Li, Hongyan; Xue, Xia; Zhu, Yuanchang; Chen, Biaobang; Sang, Qing; Wang, Lei Journal: Human reproduction Issue: Volume 37:Issue 3(2022) Page Start: 612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility. Issue 7 (11th May 2022) Authors: Liu, Ruyi; Yan, Zheng; Fan, Yong; Qu, Ronggui; Chen, Biaobang; Li, Bin; Wu, Ling; Wu, Haibo; Mu, Jian; Zhao, Lin; Wang, Wenjing; Dong, Jie; Zeng, Yang; Li, Qiaoli; Wang, Lei; Sang, Qing; Zhang, Zhihua; Kuang, Yanping Journal: Human reproduction Issue: Volume 37:Issue 7(2022) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development. Issue 12 (14th July 2020) Authors: Zhao, Lin; Xue, Songguo; Yao, Zhongyuan; Shi, Juanzi; Chen, Biaobang; Wu, Ling; Sun, Lihua; Xu, Yao; Yan, Zheng; Li, Bin; Mao, Xiaoyan; Fu, Jing; Zhang, Zhihua; Mu, Jian; Wang, Wenjing; Du, Jing; Liu, Shuai; Dong, Jie; Wang, Weijie; Li, Qiaoli Journal: Protein & cell Issue: Volume 11:Issue 12(2020) Page Start: 921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Issue 8 (30th May 2021) Authors: Wang, Weijie; Wang, Wenjing; Xu, Yao; Shi, Juanzi; Fu, Jing; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Zhao, Lin; Lin, Jing; Du, Jing; Li, Qiaoli; He, Lin; Jin, Li; Sun, Xiaoxi; Wang, Lei; Sang, Qing Journal: Human reproduction Issue: Volume 36:Issue 8(2021) Page Start: 2392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic screening in patients with ovarian dysfunction. Issue 3 (22nd November 2022) Authors: Zeng, Yang; Li, Lin; Li, Qingchun; Hu, Jijun; Zhang, Nana; Wu, Ling; Yan, Zheng; Qu, Ronggui; Dong, Jie; Liu, Ruyi; Choy, Kwong Wai; Wang, Lei; Sang, Qing; Guan, Yichun; Chen, Biaobang Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. Issue 3 (8th November 2019) Authors: Wang, Wenjing; Dong, Jie; Chen, Biaobang; Du, Jing; Kuang, Yanping; Sun, Xiaoxi; Fu, Jing; Li, Bin; Mu, Jian; Zhang, Zhihua; Zhou, Zhou; Lin, Zhao; Wu, Ling; Yan, Zheng; Mao, Xiaoyan; Li, Qiaoli; He, Lin; Wang, Lei; Sang, Qing Journal: Journal of medical genetics Issue: Volume 57:Issue 3(2020) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss. (October 2019) Authors: Zhou, Hongbin; Kuermanhan, Ahan; Zhang, Zhihua; Wang, Wenjing; Dong, Jie; Zhou, Zhou; Mu, Jian; Zhao, Lin; Wang, Jian; Li, Bing; Chen, Biaobang Journal: International journal of pediatric otorhinolaryngology Issue: Volume 125(2019:Oct.) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3. Issue 1 (10th November 2022) Authors: Zhang, Zhihua; Zhou, Hongbin; Deng, Xujing; Zhang, Ruixiu; Qu, Ronggui; Mu, Jian; Liu, Ruyi; Zeng, Yang; Chen, Biaobang; Wang, Lei; Sang, Qing; Bao, Shihua Journal: Human reproduction Issue: Volume 38:Issue 1(2023) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest. Issue 7 (15th March 2019) Authors: Mu, Jian; Wang, Wenjing; Chen, Biaobang; Wu, Ling; Li, Bin; Mao, Xiaoyan; Zhang, Zhihua; Fu, Jing; Kuang, Yanping; Sun, Xiaoxi; Li, Qiaoli; Jin, Li; He, Lin; Sang, Qing; Wang, Lei Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗